Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white matter disease whose clinicoradiologic correlation has not been completely understood. In this study, we investigated the association between clinical and brain magnetic resonance imaging (MRI) features in 22 Egyptian children (median age 7 years) with MLC. Gross motor function was assessed using the Gross Motor Function Classification System, and evaluation of brain MRI followed a consistent scoring system. Each parameter of extensive cerebral white matter T2 hyperintensity, moderate-to-severe wide ventricle/enlarged subarachnoid space, and greater than 2 temporal subcortical cysts was significantly associated (P < .05) with worse Gross Motor Function Classification System score, language abnormality, and ataxia. Having >2 parietal subcortical cysts was significantly related to a worse Gross Motor Function Classification System score (P = .04). The current study indicates that patients with MLC manifest signification association between certain brain MRI abnormalities and neurologic features, but this should be confirmed in larger studies.

中文翻译：

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22 例埃及巨脑白质脑病伴皮质下囊肿儿童的临床放射学相关性

伴有皮质下囊肿（MLC）的巨脑白质脑病是一种罕见的脑白质疾病遗传形式，其临床放射学相关性尚未完全了解。在这项研究中，我们调查了 22 名患有 MLC 的埃及儿童（中位年龄 7 岁）的临床和脑磁共振成像 (MRI) 特征之间的关联。使用大运动功能分类系统评估大运动功能，脑 MRI 评估遵循一致的评分系统。广泛脑白质T2高信号、中重度脑室宽/蛛网膜下腔扩大、颞叶皮层下囊肿大于2个等各参数显着相关（P < .05) 粗大运动功能分类系统评分、语言异常和共济失调较差。具有>2 个顶叶皮质下囊肿与较差的粗大运动功能分类系统评分显着相关（P = .04）。目前的研究表明，患有 MLC 的患者在某些脑部 MRI 异常和神经系统特征之间表现出显着关联，但这应该在更大规模的研究中得到证实。